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Article

Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.

Journal of neurology - 1 Jan 2024

Abukhaled Yara, Hatab Kenana, Awadhalla Mohammad, Hamdan Hamdan

Abstract excerpt

The most common genetic cause of intellectual disability is Down syndrome (DS), trisomy 21. It commonly results from three copies of human chromosome 21 (HC21). There are no mutations or deletions involved in DS. Instead, the phenotype is caused by altered transcription of the genes on HC21. These transcriptional variations are responsible for a myriad of symptoms affecting every organ system. A very debilitating...

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Source

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Identifiers

PMID: 37561187
DOI: 10.1007/s00415-023-11890-0
PMCID: PMC10769995

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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